Spondyloepiphyseal Dysplasia Congenita and Related Type 2/Type 11 Collagen Disorders

2018 ◽  
pp. 65-108
Author(s):  
Jürgen W. Spranger ◽  
Paula W. Brill ◽  
Christine Hall ◽  
Gen Nishimura ◽  
Andrea Superti-Furga ◽  
...  
Keyword(s):  
Clinical Findings ◽  
Differential Diagnoses ◽  
Radiographic Features ◽  
Metaphyseal Dysplasia ◽  
Spondyloepiphyseal Dysplasia ◽  
Bone Dysplasias ◽  
Spondyloepiphyseal Dysplasia Congenita ◽  
Kniest Dysplasia

This chapter further discusses bone dysplasias, and explores achondrogenesis II (hypochondrogenesis), platyspondylic dysplasia (Torrance type), spondyloepiphyseal dysplasia congenita, spondylo-epi-metaphyseal dysplasia (Strudwick type), Kniest dysplasia, spondyloepiphyseal dysplasia (Stanescu type), spondyloperipheral dysplasia, spondyloepiphyseal dysplasia with short metatarsals, Stickler dysplasia, fibrochondrogenesis, and oto-spondylo-megaepiphyseal dysplasia. Each discussion includes major clinical findings, major radiographic features, genetics, major differential diagnoses, and a bibliography.

Type 2 Collagen Group

2012 ◽  
pp. 127-153 ◽  
Author(s):  
Jürgen W. Spranger ◽  
Paula W. Brill ◽  
Gen Nishimura ◽  
Andrea Superti-Furga ◽  
Sheila Unger
Keyword(s):  
Autosomal Dominant ◽  
Clinical Findings ◽  
Differential Diagnoses ◽  
Spondyloepiphyseal Dysplasia ◽  
Collagen Group ◽  
Spondyloepiphyseal Dysplasia Congenita ◽  
Epiphyseal Dysplasia ◽  
Achondrogenesis Type ◽  
Kniest Dysplasia

Chapter 24 covers disorders of the Type 2 collegen group (achondrogenesis type 2 (MIM100610), hypochondrogenesis (MIM 200610), spondyloepiphyseal dysplasia Torrance type (MIM 151210), spondyloepiphyseal dysplasia congenita (MIM 183900), Kniest dysplasia (MIM 256550), spondyloperipheral dysplasia (MIM 271700), spondyloepiphyseal dysplasia with metatarsal shortening (MIM 609162), autosomal dominant spondyloarthropathy (MIM 604864), vitreoretinopathy with phalangeal epiphyseal dysplasia (MIM 120140.0037), Stickler dysplasia (MIM 108300, 604841)), including major clinical findings, radiographic features, and differential diagnoses.

Polytopic Dysostoses

2018 ◽  
pp. 757-794
Author(s):  
Jürgen W. Spranger ◽  
Paula W. Brill ◽  
Christine Hall ◽  
Gen Nishimura ◽  
Andrea Superti-Furga ◽  
...  
Keyword(s):  
Clinical Findings ◽  
Differential Diagnoses ◽  
Cleidocranial Dysplasia ◽  
Campomelic Dysplasia ◽  
Radiographic Features ◽  
Metaphyseal Dysplasia ◽  
Bone Dysplasias ◽  
Nail Patella Syndrome ◽  
Patellar Dysplasia

This chapter further discusses bone dysplasias and includes discussion on campomelic dysplasia, cousin dysplasia, spondylo-megaepiphyseal-metaphyseal dysplasia, cleidocranial dysplasia, Yunis-Varon syndrome, CDAGS, nail-patella syndrome, ischio-pubic-patellar dysplasia, ischiospinal dysostosis, and cerebro-costo-mandibular syndrome. Each discussion includes major radiographic features, major clinical findings, genetics, major differential diagnoses, and a bibliography.

Disorders with Prenatal Short Stature and Slender Bones

2018 ◽  
pp. 795-814
Author(s):  
Jürgen W. Spranger ◽  
Paula W. Brill ◽  
Christine Hall ◽  
Gen Nishimura ◽  
Andrea Superti-Furga ◽  
...  
Keyword(s):  
Short Stature ◽  
Growth Retardation ◽  
Clinical Findings ◽  
Differential Diagnoses ◽  
Metaphyseal Dysplasia ◽  
Adrenal Hypoplasia Congenita ◽  
Bone Dysplasias ◽  
Primordial Dwarfism ◽  
Adrenal Hypoplasia

This chapter further discusses bone dysplasias and includes discussion on 3M syndrome, Kenny-Caffey syndrome, osteocraniostenosis, microcephalic osteodysplastic primordial dwarfism (types 1 and 3), microcephalic osteodysplastic primordial dwarfism (type 2), and IMAGE (intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies) syndrome. Each discussion includes major radiographic features, major clinical findings, genetics, major differential diagnoses, and a bibliography.

Acromesomelic and Acromelic Dysplasias/Dysostoses

2018 ◽  
pp. 443-496
Author(s):  
Jürgen W. Spranger ◽  
Paula W. Brill ◽  
Christine Hall ◽  
Gen Nishimura ◽  
Andrea Superti-Furga ◽  
...  
Keyword(s):  
Clinical Findings ◽  
Differential Diagnoses ◽  
Radiographic Features ◽  
Albright Hereditary Osteodystrophy ◽  
Grebe Dysplasia ◽  
Myhre Syndrome ◽  
Acromicric Dysplasia

This chapter discusses acromesomelic and acromelic dysplasias/dysostoses and related disorders and includes discussion on acromesomelic dysplasias (Maroteaux type), Grebe dysplasia, brachydactyly A1, brachydactyly B, brachydactyly C, brachydactyly D, brachydactyly E, brachydactyly (Christian type), tricho-rhino-phalangeal dysplasia (type 1), tricho-rhino-phalangeal dysplasia (type 2), acrocapitofemoral dysplasia, Albright hereditary osteodystrophy, acrodysostosis, geleophysic dysplasia, acromicric dysplasia, Myhre syndrome, and SOFT syndrome. Each discussion includes major radiographic features, major clinical findings, genetics, major differential diagnoses, and a bibliography.

Metaphyseal Dysplasia, Spahr Type (Mim 250400)

2012 ◽  
pp. 23-24
Author(s):  
Jürgen W. Spranger ◽  
Paula W. Brill ◽  
Gen Nishimura ◽  
Andrea Superti-Furga ◽  
Sheila Unger
Keyword(s):  
Clinical Findings ◽  
Differential Diagnoses ◽  
Radiographic Features ◽  
Metaphyseal Dysplasia

Chapter 4 covers metaphyseal dysplasia spahr type (MIM 250400), including major clinical findings, radiographic features, and differential diagnoses.

Dysorders with Defective Mineralization

2018 ◽  
pp. 557-574
Author(s):  
Jürgen W. Spranger ◽  
Paula W. Brill ◽  
Christine Hall ◽  
Gen Nishimura ◽  
Andrea Superti-Furga ◽  
...  
Keyword(s):  
Primary Hyperparathyroidism ◽  
Clinical Findings ◽  
Differential Diagnoses ◽  
Laboratory Findings ◽  
Radiographic Features ◽  
Bone Dysplasias ◽  
Neonatal Severe Primary Hyperparathyroidism

This chapter further discusses bone dysplasias and includes discussion on hypophosphatasia, neonatal severe primary hyperparathyroidism, and hereditary rickets. Each discussion includes major radiographic features, major clinical findings, major laboratory findings, genetics, major differential diagnoses, and a bibliography.

Image (Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies) Syndrome (Mim 300290)

2012 ◽  
pp. 398-399
Author(s):  
Jürgen W. Spranger ◽  
Paula W. Brill ◽  
Gen Nishimura ◽  
Andrea Superti-Furga ◽  
Sheila Unger
Keyword(s):  
Growth Retardation ◽  
Intrauterine Growth Retardation ◽  
Clinical Findings ◽  
Differential Diagnoses ◽  
Radiographic Features ◽  
Metaphyseal Dysplasia ◽  
Intrauterine Growth ◽  
Adrenal Hypoplasia Congenita ◽  
Adrenal Hypoplasia

Chapter 92 covers IMAGE (intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies) syndrome (MIM 300290), including major clinical findings, radiographic features, and differential diagnoses.

Kenny-Caffey syndrome (Mim 244460 [Type I]; 127000 [Type 2])

2012 ◽  
pp. 389-391
Author(s):  
Jürgen W. Spranger ◽  
Paula W. Brill ◽  
Gen Nishimura ◽  
Andrea Superti-Furga ◽  
Sheila Unger
Keyword(s):  
Clinical Findings ◽  
Differential Diagnoses ◽  
Type I ◽  
Radiographic Features

Chapter 89 covers Kenny-Caffey syndrome (MIM 244460 [type 1], 127000 [type 2]), including major clinical findings, radiographic features, and differential diagnoses.

Filamin B Group

2012 ◽  
pp. 112-124
Author(s):  
Jürgen W. Spranger ◽  
Paula W. Brill ◽  
Gen Nishimura ◽  
Andrea Superti-Furga ◽  
Sheila Unger
Keyword(s):  
Autosomal Dominant ◽  
Clinical Findings ◽  
Differential Diagnoses ◽  
Radiographic Features ◽  
Larsen Syndrome ◽  
Filamin B

Chapter 23 covers disorders of the Filamin B group (Boomerang dysplasia/atelosteogenesis type 1 (MIM 112310, 108720), atelosteogenesis type 2 (MIM 108721), Larsen syndrome, autosomal dominant (MIM 150250), spondylocarpotarsal synostosis syndrome (MIM 272460), including major clinical findings, radiographic features, and differential diagnoses.

Filamin A Group

2012 ◽  
pp. 93-111
Author(s):  
Jürgen W. Spranger ◽  
Paula W. Brill ◽  
Gen Nishimura ◽  
Andrea Superti-Furga ◽  
Sheila Unger
Keyword(s):  
Type A ◽  
Clinical Findings ◽  
Differential Diagnoses ◽  
Syndrome Type ◽  
Filamin A ◽  
Radiographic Features ◽  
Otopalatodigital Syndrome

Chapter 22 covers Type A filaminopathies and related disorders (otopalatodigital syndrome type 1 (MIM 311300), otopalatodigital syndrome type 2 (MIM304120), Melnick-Needles osteodysplasty (MIM 309350), frontometaphyseal dysplasia (MIM 305620), Frank-Ter Harr syndrome (MIM 249420)), including major clinical findings, radiographic features, and differential diagnoses.

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